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PubMed1989

Severe neural tube defect syndrome from the Early Archaic of Florida.

The Early Archaic Windover site is on the east coast of mid-peninsular Florida. A subadult skeleton (about 15 years old at time of death) was recovered with multiple pathologies related to spina bifida aperta of the neural arch at the L3-S2 level of the spine. Other evidence indicates s.b. cystica, although the degree of severity of the dysraphic neural tube syndrome cannot be directly determined. In addition to spina bifida, the lumbar region is scoliotic from malformation of zygapophyses. The defect is accompanied by severe infection of the right tibia and fibula, and disuse atrophy of long bones. It is hypothesized the NTD (neural tube defect) led to progressive sensory deprivation, which in turn led to increased loss of mobility, ulceration, and risk of serious infections. Other "minor" anomalies such as cone-shaped epiphyses, enlarged nutrient foramina, and vental vertebral cavitation are also discussed. The chronic nature of these defects provide insight on the high level of long-term care and attention provided a severely handicapped individual 7,500 years ago.

Adolescent↗
PubMed1995

apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes.

apo B is a structural constituent of several classes of lipoprotein particles, including chylomicrons, VLDL, and LDL. To better understand the role of apo B in the body, we have used gene targeting in embryonic stem cells to create a null apo B allele in the mouse. Homozygous apo B deficiency led to embryonic lethality, with resorption of all embryos by gestational day 9. Heterozygotes showed an increased tendency to intrauterine death with some fetuses having incomplete neural tube closure and some live-born heterozygotes developing hydrocephalus. The majority of male heterozygotes were sterile, although the genitourinary system and sperm were grossly normal. Viable heterozygotes had normal triglycerides, but total, LDL, and HDL cholesterol levels were decreased by 37, 37, and 39%, respectively. Hepatic and intestinal apo B mRNA levels were decreased in heterozygotes, presumably contributing to the decreased LDL levels through decreased synthesis of apo B-containing lipoproteins. Kinetic studies indicated that heterozygotes had decreased transport rates of HDL cholesterol ester and apo A-I. As liver and intestinal apo A-I mRNA levels were unchanged, the mechanism for decreased apo A-I transport must be posttranscriptional. Heterozygotes also had normal cholesterol absorption and a normal response of the plasma lipoprotein pattern to chronic consumption of a high fat, high cholesterol, Western-type diet. In summary, we report a mouse model for apo B deficiency with several phenotypic features that were unexpected based on clinical studies of apo B-deficient humans, such as embryonic lethality in homozygotes and neural tube closure defects, male infertility, and a major defect in HDL production in heterozygotes. This model presents an opportunity to study the mechanisms underlying these phenotypic changes.

Alleles↗